TRRAP
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 43.5% | 20/46 |
| Female | 56.5% | 26/46 |
| Indifferent | 0% | 0/46 |
| Unknown | 0% | 0/46 |
| General | ||
| Birth Length abnormalities | 0% | 0/46 |
| Birth Weight abnormalities | 2.2% | 1/46 |
| < P3 : Small for gestational age | 2.2% | 1/46 |
| Birth Head circumference abnormalities | 0% | 0/46 |
| Current Height abnormalities | 30.4% | 14/46 |
| < P3 : Short stature | 30.4% | 14/46 |
| Current Weight abnormalities | 26.1% | 12/46 |
| < P3 : Decreased body weight | 21.7% | 10/46 |
| > P98 : Increased body weight | 4.3% | 2/46 |
| Current Head circumference abnormalities | 32.6% | 15/46 |
| < P3 : Microcephaly | 28.3% | 13/46 |
| > P98 : Macrocephaly | 4.3% | 2/46 |
| Neurology | ||
| Neurological abnormalities | 85.3% | 29/34 |
| Muscular hypotonia | 26.5% | 9/34 |
| Sleep disturbance | 14.7% | 5/34 |
| Generalized tonic-clonic seizures | 11.8% | 4/34 |
| Ankle clonus | 5.9% | 2/34 |
| Focal seizures | 5.9% | 2/34 |
| Hypertonia | 5.9% | 2/34 |
| Infantile spasms | 5.9% | 2/34 |
| Severe muscular hypotonia | 5.9% | 2/34 |
| Abnormality of movement | 2.9% | 1/34 |
| Abnormality of coordination | 2.9% | 1/34 |
| Absent patellar reflexes | 2.9% | 1/34 |
| Bilateral convulsive seizures | 2.9% | 1/34 |
| Brisk reflexes | 2.9% | 1/34 |
| Clonus | 2.9% | 1/34 |
| Epileptic encephalopathy | 2.9% | 1/34 |
| Facial hypotonia | 2.9% | 1/34 |
| Focal seizures without impairment of consciousness or awareness | 2.9% | 1/34 |
| Hyperreflexia | 2.9% | 1/34 |
| Hypothermia | 2.9% | 1/34 |
| Infantile muscular hypotonia | 2.9% | 1/34 |
| Infantile axial hypotonia | 2.9% | 1/34 |
| Limb hypertonia | 2.9% | 1/34 |
| Lower limb hyperreflexia | 2.9% | 1/34 |
| Migraine | 2.9% | 1/34 |
| Neonatal hypotonia | 2.9% | 1/34 |
| Obstructive sleep apnea | 2.9% | 1/34 |
| Oral-pharyngeal dysphagia | 2.9% | 1/34 |
| Sensorimotor neuropathy | 2.9% | 1/34 |
| Spastic paraplegia | 2.9% | 1/34 |
| Spastic paraparesis | 2.9% | 1/34 |
| Tremor | 2.9% | 1/34 |
| Behavioral problems | 87.5% | 21/24 |
| Autism | 50.0% | 12/24 |
| Attention deficit hyperactivity disorder | 12.5% | 3/24 |
| Autistic behavior | 8.3% | 2/24 |
| Anxiety | 4.2% | 1/24 |
| Behavioral abnormality | 4.2% | 1/24 |
| Dyslexia | 4.2% | 1/24 |
| Emotional lability | 4.2% | 1/24 |
| Hyperactivity | 4.2% | 1/24 |
| Memory impairment | 4.2% | 1/24 |
| Obsessive-compulsive behavior | 4.2% | 1/24 |
| Psychosis | 4.2% | 1/24 |
| Recurrent hand flapping | 4.2% | 1/24 |
| Short attention span | 4.2% | 1/24 |
| Stereotypic behavior | 4.2% | 1/24 |
| Brain abnormality | 61.9% | 13/21 |
| Ventriculomegaly | 19.0% | 4/21 |
| Dandy-Walker malformation | 14.3% | 3/21 |
| Cerebellar vermis hypoplasia | 9.5% | 2/21 |
| Cerebellar atrophy | 9.5% | 2/21 |
| Inferior vermis hypoplasia | 9.5% | 2/21 |
| Abnormality of the cerebellar vermis | 4.8% | 1/21 |
| Arnold-Chiari type I malformation | 4.8% | 1/21 |
| Atrophy/Degeneration affecting the brainstem | 4.8% | 1/21 |
| Cerebral cortical atrophy | 4.8% | 1/21 |
| Cerebral white matter atrophy | 4.8% | 1/21 |
| Cerebellar hypoplasia | 4.8% | 1/21 |
| Cortical dysplasia | 4.8% | 1/21 |
| Delayed myelination | 4.8% | 1/21 |
| Dilated fourth ventricle | 4.8% | 1/21 |
| Encephalomalacia | 4.8% | 1/21 |
| Hypoplasia of the brainstem | 4.8% | 1/21 |
| Hypoplasia of the pons | 4.8% | 1/21 |
| Hypoplasia of the corpus callosum | 4.8% | 1/21 |
| Intracranial hemorrhage | 4.8% | 1/21 |
| Occipital cortical atrophy | 4.8% | 1/21 |
| Polymicrogyria | 4.8% | 1/21 |
| Porencephaly | 4.8% | 1/21 |
| Small pituitary gland | 4.8% | 1/21 |
| Widened subarachnoid space | 4.8% | 1/21 |
| Facial abnormalities | ||
| Abnormality of the ear | 42.5% | 17/40 |
| Low-set ears | 20.0% | 8/40 |
| Large earlobe | 5.0% | 2/40 |
| Macrotia | 5.0% | 2/40 |
| Overfolded helix | 5.0% | 2/40 |
| Posteriorly rotated ears | 5.0% | 2/40 |
| Abnormality of the pinna | 2.5% | 1/40 |
| Aplasia/Hypoplasia of the tragus | 2.5% | 1/40 |
| Cupped ear | 2.5% | 1/40 |
| Low-set, posteriorly rotated ears | 2.5% | 1/40 |
| Microtia | 2.5% | 1/40 |
| Preauricular skin tag | 2.5% | 1/40 |
| Protruding ear | 2.5% | 1/40 |
| Small earlobe | 2.5% | 1/40 |
| Thickened helices | 2.5% | 1/40 |
| Abnormality of the eye | 76.9% | 30/39 |
| Hypertelorism | 17.9% | 7/39 |
| Epicanthus | 15.4% | 6/39 |
| Highly arched eyebrow | 15.4% | 6/39 |
| Deeply set eye | 12.8% | 5/39 |
| Upslanted palpebral fissure | 10.3% | 4/39 |
| Short palpebral fissure | 7.7% | 3/39 |
| Telecanthus | 7.7% | 3/39 |
| Downslanted palpebral fissures | 5.1% | 2/39 |
| Prominent epicanthal folds | 5.1% | 2/39 |
| Small palpebral fissure | 5.1% | 2/39 |
| Unilateral ptosis | 5.1% | 2/39 |
| Almond-shaped palpebral fissure | 2.6% | 1/39 |
| Ectropion | 2.6% | 1/39 |
| Long palpebral fissure | 2.6% | 1/39 |
| Ptosis | 2.6% | 1/39 |
| Sparse eyebrow | 2.6% | 1/39 |
| Thick eyebrow | 2.6% | 1/39 |
| Abnormality of the nose | 45.0% | 18/40 |
| Depressed nasal bridge | 20.0% | 8/40 |
| Anteverted nares | 15.0% | 6/40 |
| Narrow nose | 5.0% | 2/40 |
| Short nose | 5.0% | 2/40 |
| Wide nasal bridge | 5.0% | 2/40 |
| Abnormal nasal morphology | 2.5% | 1/40 |
| Abnormality of the columella | 2.5% | 1/40 |
| Bulbous nose | 2.5% | 1/40 |
| Depressed nasal tip | 2.5% | 1/40 |
| Pear-shaped nose | 2.5% | 1/40 |
| Prominent nasal bridge | 2.5% | 1/40 |
| Prominent nose | 2.5% | 1/40 |
| Abnormality of the mouth | 70.0% | 28/40 |
| Thin upper lip vermilion | 22.5% | 9/40 |
| High palate | 10.0% | 4/40 |
| Micrognathia | 10.0% | 4/40 |
| Smooth philtrum | 10.0% | 4/40 |
| Wide mouth | 10.0% | 4/40 |
| Cleft palate | 7.5% | 3/40 |
| Dental crowding | 5.0% | 2/40 |
| Narrow mouth | 5.0% | 2/40 |
| Pierre-Robin sequence | 5.0% | 2/40 |
| Short philtrum | 5.0% | 2/40 |
| Thick vermilion border | 5.0% | 2/40 |
| Abnormality of the alveolar ridges | 2.5% | 1/40 |
| Abnormality of the teeth | 2.5% | 1/40 |
| Agenesis of maxillary lateral incisor | 2.5% | 1/40 |
| Carious teeth | 2.5% | 1/40 |
| Chapped lip | 2.5% | 1/40 |
| Delayed eruption of teeth | 2.5% | 1/40 |
| Diastema | 2.5% | 1/40 |
| Downturned corners of mouth | 2.5% | 1/40 |
| Everted upper lip vermilion | 2.5% | 1/40 |
| Everted lower lip vermilion | 2.5% | 1/40 |
| High, narrow palate | 2.5% | 1/40 |
| Macrodontia of permanent maxillary central incisor | 2.5% | 1/40 |
| Mandibular prognathia | 2.5% | 1/40 |
| Microdontia | 2.5% | 1/40 |
| Misalignment of teeth | 2.5% | 1/40 |
| Oral cleft | 2.5% | 1/40 |
| Protruding tongue | 2.5% | 1/40 |
| Thick upper lip vermilion | 2.5% | 1/40 |
| Widely spaced teeth | 2.5% | 1/40 |
| Visual and hearing impairments | ||
| Abnormal hearing | 18.9% | 7/37 |
| Unilateral deafness | 5.4% | 2/37 |
| Abnormality of the inner ear | 2.7% | 1/37 |
| Bilateral sensorineural hearing impairment | 2.7% | 1/37 |
| Conductive hearing impairment | 2.7% | 1/37 |
| Glue ear | 2.7% | 1/37 |
| Hearing impairment | 2.7% | 1/37 |
| Mid-frequency hearing loss | 2.7% | 1/37 |
| Morphological abnormality of the lateral semicircular canal | 2.7% | 1/37 |
| Sensorineural hearing impairment | 2.7% | 1/37 |
| Abnormal vision | 36.1% | 13/36 |
| Hypermetropia | 8.3% | 3/36 |
| Strabismus | 8.3% | 3/36 |
| Astigmatism | 5.6% | 2/36 |
| Myopia | 5.6% | 2/36 |
| Anterior segment dysgenesis | 2.8% | 1/36 |
| Blindness | 2.8% | 1/36 |
| Central posterior corneal opacity | 2.8% | 1/36 |
| Corneal opacity | 2.8% | 1/36 |
| Cortical visual impairment | 2.8% | 1/36 |
| Esotropia | 2.8% | 1/36 |
| Iris coloboma | 2.8% | 1/36 |
| Macular hypoplasia | 2.8% | 1/36 |
| Optic nerve coloboma | 2.8% | 1/36 |
| Heart | ||
| Abnormality of the heart | 56.5% | 13/23 |
| Ventricular septal defect | 21.7% | 5/23 |
| Patent ductus arteriosus | 17.4% | 4/23 |
| Atria septal defect | 13.0% | 3/23 |
| Bicuspid aortic valve | 8.7% | 2/23 |
| Patent foramen ovale | 8.7% | 2/23 |
| Abnormal heart morphology | 4.3% | 1/23 |
| Biventricular hypertrophy | 4.3% | 1/23 |
| Coarctation of aorta | 4.3% | 1/23 |
| Ebstein's anomaly of the tricuspid valve | 4.3% | 1/23 |
| Heart murmur | 4.3% | 1/23 |
| Left superior vena cava draining to coronary sinus | 4.3% | 1/23 |
| Primum atrial septal defect | 4.3% | 1/23 |
| Pulmonary artery hypoplasia | 4.3% | 1/23 |
| Subaortic stenosis | 4.3% | 1/23 |
| Supraventricular tachycardia | 4.3% | 1/23 |
| Tetralogy of Fallot | 4.3% | 1/23 |
| Pulmonary | ||
| Abnormality of the lungs | 80.0% | 8/10 |
| Asthma | 30.0% | 3/10 |
| Laryngomalacia | 20.0% | 2/10 |
| Tracheomalacia | 20.0% | 2/10 |
| Aspiration | 10.0% | 1/10 |
| Choanal stenosis | 10.0% | 1/10 |
| Recurrent upper respiratory tract infections | 10.0% | 1/10 |
| Respiratory infections in early life | 10.0% | 1/10 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 60.7% | 17/28 |
| Feeding difficulties | 28.6% | 8/28 |
| Gastroesophageal reflux | 25.0% | 7/28 |
| Constipation | 14.3% | 4/28 |
| Feeding difficulties in infancy | 10.7% | 3/28 |
| Abdominal pain | 3.6% | 1/28 |
| Chronic constipation | 3.6% | 1/28 |
| Diarrhea | 3.6% | 1/28 |
| Duodenal atresia | 3.6% | 1/28 |
| Urogenital | ||
| Abnormality of the urogenital system | 55.6% | 10/18 |
| Hydronephrosis | 22.2% | 4/18 |
| Multicystic kidney dysplasia | 11.1% | 2/18 |
| Uterus didelphys | 11.1% | 2/18 |
| Bilateral cryptorchidism | 5.6% | 1/18 |
| Cryptorchidism | 5.6% | 1/18 |
| Hypospadias | 5.6% | 1/18 |
| Microphallus | 5.6% | 1/18 |
| Micropenis | 5.6% | 1/18 |
| Pyelonephritis | 5.6% | 1/18 |
| Recurrent urinary tract infections | 5.6% | 1/18 |
| Renal hypoplasia/aplasia | 5.6% | 1/18 |
| Renal cyst | 5.6% | 1/18 |
| Scrotal hypoplasia | 5.6% | 1/18 |
| Unilateral renal hypoplasia | 5.6% | 1/18 |
| Vesicoureteral reflux | 5.6% | 1/18 |
| Skeleton | ||
| Skeletal abnormalities | 75.7% | 28/37 |
| Arachnodactyly | 10.8% | 4/37 |
| Clinodactyly of the 5th finger | 10.8% | 4/37 |
| Delayed skeletal maturation | 5.4% | 2/37 |
| Hip dysplasia | 5.4% | 2/37 |
| Long fingers | 5.4% | 2/37 |
| Overlapping toe | 5.4% | 2/37 |
| Pes planus | 5.4% | 2/37 |
| Scoliosis | 5.4% | 2/37 |
| Short neck | 5.4% | 2/37 |
| Short foot | 5.4% | 2/37 |
| Small hand | 5.4% | 2/37 |
| Tapered finger | 5.4% | 2/37 |
| 2-3 toe syndactyly | 5.4% | 2/37 |
| Abnormality of the phalanges of the toes | 2.7% | 1/37 |
| Abnormality of the vertebrae | 2.7% | 1/37 |
| Broad toe | 2.7% | 1/37 |
| Broad ribs | 2.7% | 1/37 |
| Clinodactyly of the 5th toe | 2.7% | 1/37 |
| Congenital muscular torticollis | 2.7% | 1/37 |
| Cubitus valgus | 2.7% | 1/37 |
| Enlarged thorax | 2.7% | 1/37 |
| Flexion contracture of finger | 2.7% | 1/37 |
| Hip dislocation | 2.7% | 1/37 |
| Joint hypermobility | 2.7% | 1/37 |
| Joint laxity | 2.7% | 1/37 |
| Kyphoscoliosis | 2.7% | 1/37 |
| Long palm | 2.7% | 1/37 |
| Long toe | 2.7% | 1/37 |
| Pectus excavatum | 2.7% | 1/37 |
| Postaxial hand polydactyly | 2.7% | 1/37 |
| Progressive flexion contractures | 2.7% | 1/37 |
| Recurrent fractures | 2.7% | 1/37 |
| Short ribs | 2.7% | 1/37 |
| Short distal phalanx of finger | 2.7% | 1/37 |
| Short finger | 2.7% | 1/37 |
| Short phalanx of finger | 2.7% | 1/37 |
| Short metacarpal | 2.7% | 1/37 |
| Short hallux | 2.7% | 1/37 |
| Single transverse palmar crease | 2.7% | 1/37 |
| Thoracolumbar scoliosis | 2.7% | 1/37 |
| Wide anterior fontanel | 2.7% | 1/37 |
| 4-5 finger syndactyly | 2.7% | 1/37 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 57.6% | 19/33 |
| Cafe-au-lait spot | 12.1% | 4/33 |
| Supernumerary nipple | 12.1% | 4/33 |
| Aplasia/Hypoplasia of the nails | 6.1% | 2/33 |
| Aplastic/hypoplastic toenail | 6.1% | 2/33 |
| Inverted nipples | 6.1% | 2/33 |
| Nail dysplasia | 6.1% | 2/33 |
| Small nail | 6.1% | 2/33 |
| Sparse hair | 6.1% | 2/33 |
| Abnormal number of hair whorls | 3.0% | 1/33 |
| Bruising susceptibility | 3.0% | 1/33 |
| Clinodactyly | 3.0% | 1/33 |
| Frontal upsweep of hair | 3.0% | 1/33 |
| Hyperconvex fingernails | 3.0% | 1/33 |
| Hypoplastic fifth toenail | 3.0% | 1/33 |
| Hypoplastic toenails | 3.0% | 1/33 |
| Hypoplastic fifth fingernail | 3.0% | 1/33 |
| Low anterior hairline | 3.0% | 1/33 |
| Low posterior hairline | 3.0% | 1/33 |
| Soft skin | 3.0% | 1/33 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 66.7% | 2/3 |
| Cholestasis | 33.3% | 1/3 |
| Hypoglycemia | 33.3% | 1/3 |
| Hypothyroidism | 33.3% | 1/3 |
| Abnormality of the immune system | 71.4% | 5/7 |
| Otitis media | 28.6% | 2/7 |
| Recurrent otitis media | 28.6% | 2/7 |
| Recurrent infections | 14.3% | 1/7 |